NEUROMUSCULAR DISEASES

This program provides access to an experimental drug, AOC 1044, for people with Duchenne muscular dystrophy (DMD) whose genetic mutation can be treated by skipping exon 44. The goal is to help control the disease and improve muscle function. Participants must be at least 2 years …

This study tests an oral drug called SAT-3247 in 51 boys aged 7 to 10 with Duchenne muscular dystrophy who can still walk. The goal is to find the best dose, check safety, and see if it helps muscle strength. Participants take the drug or a placebo for 12 weeks, and all continue …

This phase 3 trial tests a single dose of NTLA-2001, a gene-editing therapy, in 60 adults with hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN), a rare genetic disease that damages nerves. Participants are randomly assigned to receive either the active treatmen…

This study tests a brain implant that records brain signals to help people with locked-in syndrome control a computer. Two participants will have 128 electrodes placed on their brain surface. Researchers will train them to use the system at home for one year, aiming for accurate …

This study tests a new type of breathing machine (volume-targeted ventilation) for people with slowly worsening muscle diseases who already use a standard breathing machine at night. The goal is to see if it can better control carbon dioxide levels and improve sleep comfort. Abou…

This study tracks quality of life in 200 adults with chronic respiratory failure who use breathing support like non-invasive ventilation. Researchers will use questionnaires to see how treatments impact daily living over time. The goal is to better understand patient experiences,…

This study looks at how to best use a machine that helps people with neuromuscular disease cough and clear mucus from their lungs. Researchers will test different pressure settings to see which works best without causing side effects. About 30 adults with stable or slowly progres…

This study tests whether a playful coaching feature on a cough-assist device helps children learn to use it more effectively. Researchers will compare learning speed and cough quality in healthy children aged 6-12, and later in children with neuromuscular diseases. The goal is to…

This study measures how hard children with conditions like neuromuscular disease, scoliosis, or heart problems work to breathe. Researchers use a thin tube placed through the nose into the esophagus to measure breathing muscle strength and effort. The goal is to better understand…

This study is collecting health data and blood samples from 100 people with specific types of hereditary spastic paraplegia (SPG4 and SPG5A). The goal is to create a shared database and biobank to better understand how the disease progresses. This information will help prepare fo…

This study uses a small button-like device worn on the thigh to measure how active people with neuromuscular diseases are over a week, every 6 months for 3 years. Participants also do a walking test and answer questionnaires. The goal is to better understand activity patterns, no…

This study follows 20 people with a rare nerve disease called CMT4J for up to 2 years. Researchers will track symptoms and health changes to better understand how the disease progresses. The goal is to find better ways to measure the disease, which could help design future treatm…

This study looks at whether a sleep breathing test done at home can help doctors check how well a nighttime breathing machine is working for people with neuromuscular diseases. The goal is to see if the test is practical and gives useful information to adjust the machine settings…

This study tests a new device called pneuRIP that measures breathing without needles or tubes. It uses special bands placed around the chest and belly. Researchers will compare it to an existing monitor in 20 children—10 healthy and 10 with mild breathing problems from muscle or …

This study is testing a device called Electrical Impedance Tomography (EIT) that uses electrodes to create images of the lungs without radiation. Researchers want to see if it can provide useful information about lung function in children with chronic respiratory diseases, includ…